Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 16
rs199474657
TRNL1 ; ND1 ; ND2
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 15
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 13
rs28931593
GJB2
0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 9
rs3774937
NFKB1
0.776 0.280 4 102513096 intron variant T/C snv 0.26 9
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv 9
rs1057517491
GJB2
0.776 0.240 13 20189448 frameshift variant C/- delins 8
rs1566304640
EDNRB-AS1 ; EDNRB
0.827 0.280 13 77900593 missense variant G/A snv 8
rs281874674
COL4A5
0.827 0.280 X 108597479 missense variant G/C;T snv 8
rs387906930
WFS1
0.790 0.360 4 6301846 missense variant C/G;T snv 8
rs111033437
MYO7A
0.882 0.120 11 77179925 missense variant G/A;T snv 6
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs1564494285
RET
0.882 0.200 10 43111219 frameshift variant TG/- delins 6
rs587781262
PRPS1
0.882 0.240 X 107640938 missense variant A/G snv 6
rs796053353
STXBP1
0.882 0.120 9 127661192 missense variant C/T snv 6
rs80338826
MYH9
0.827 0.320 22 36305985 missense variant G/A snv 6
rs80338828
MYH9
0.851 0.200 22 36305975 missense variant C/T snv 6
rs1057516039
KMT2D
0.882 0.280 12 49029400 splice donor variant C/T snv 5
rs1567498374
KARS1
0.882 0.160 16 75630493 frameshift variant G/-;GG delins 5
rs587781263
PRPS1
0.925 0.240 X 107650000 missense variant G/T snv 5
rs80338829
MYH9
0.851 0.200 22 36295069 missense variant G/A snv 5
rs104894404
GJB2
0.882 0.200 13 20189406 missense variant C/G;T snv 4